Tmc gene therapy restores auditory function in deaf mice

Science Translational Medicine

Volumn 7, Issue 295, 2015, Pages

  Askew, Charles ^a,b   Rochat, Cylia ^c   Pan, Bifeng ^a   Asai, Yukako ^a   Ahmed, Hena ^a   Child, Erin ^a   Schneider, Bernard L ^c   Aebischer, Patrick ^c   Holt, Jeffrey R ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF VIRGINIA   (United States)

^c EPFL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ACTIN; PARVOVIRUS VECTOR; MEMBRANE PROTEIN; TMC1 PROTEIN, MOUSE;

ACOUSTIC STRESS; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUDITORY SYSTEM FUNCTION; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; EVOKED BRAIN STEM AUDITORY RESPONSE; GENE; GENE AUGMENTATION THERAPY; GENE DELETION; GENE EXPRESSION; GENE THERAPY; GENETIC SCREENING; HAIR CELL; HEARING IMPAIRMENT; LOSS OF FUNCTION MUTATION; MOUSE; MOUSE MODEL; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; SEROTYPE; SIGNAL TRANSDUCTION; STARTLE REFLEX; TMC1 GENE; TMC2 GENE; ANIMAL; C57BL MOUSE; DEAFNESS; DEPENDOPARVOVIRUS; GENETICS; HEARING; MUTANT MOUSE STRAIN;

ANIMALS; DEAFNESS; DEPENDOVIRUS; GENETIC THERAPY; HEARING; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MICE, MUTANT STRAINS;

EID: 84937117483     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.aab1996     Document Type: Article

References (27)

1. G. S. G. Géléoc, J. R. Holt, Sound strategies for hearing restoration. Science 344, 1241062 (2014).
2. D. C. Kohrman, Y. Raphael, Gene therapy for deafness. Gene Ther. 20, 1119-1123 (2013).
3. B. W. Kesser, G. T. Hashisaki, K. Fletcher, H. Eppard, J. R. Holt, An in vitro model system to study gene therapy in the human inner ear. Gene Ther. 14, 1121-1131 (2007).
4. B. W. Kesser, G. T. Hashisaki, J. R. Holt, Gene transfer in human vestibular epithelia and the prospects for inner ear gene therapy. Laryngoscope 118, 821-831 (2008).
5. O. Akil, R. P. Seal, K. Burke, C. Wang, A. Alemi, M. During, R. H. Edwards, L. R. Lustig, Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy. Neuron 75, 283-293 (2012).
6. S.-I. Kitajiri, R. McNamara, T. Makishima, T. Husnain, A. U. Zafar, R. A. Kittles, Z. M. Ahmed, T. B. Friedman, S. Riazuddin, A. J. Griffith, Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. Clin. Genet. 72, 546-550 (2007).
7. A. Sirmaci, D. Duman, H. Öztürkmen-Akay, S. Erbek, A. İncesulu, B. Öztürk-Hişmi, Z. S. Arici, E. B. Yüksel-Konuk, S. Taşir-Yilmaz, S. Tokgöz-Yilmaz, F. B. Cengiz, İ. Aslan, M. Yildirim, A. Hasanefendioʇlu-Bayrak, A. Ayçiçek, İ. Yilmaz, S. Fitoz, F. Altin, H. Özdaʇ, M. Tekin, Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensori-neural hearing loss: A report of five novel mutations. Int. J. Pediatr. Otorhinolaryngol. 73, 699-705 (2009).
8. Y. Kawashima, K. Kurima, B. Pan, A. J. Griffith, J. R. Holt, Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation. Pflugers Arch. 467, 85-94 (2015).
9. H. Nakanishi, K. Kurima, Y. Kawashima, A. J. Griffith, Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction. Auris Nasus Larynx 41, 399-408 (2014).
10. Y. Kawashima, G. S. G. Géléoc, K. Kurima, V. Labay, A. Lelli, Y. Asai, T. Makishima, D. K. Wu, C. C. Della Santina, J. R. Holt, A. J. Griffith, Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes. J. Clin. Invest. 121, 4796-4809 (2011).
11. B. Pan, G. S. G. Géléoc, Y. Asai, G. C. Horwitz, K. Kurima, K. Ishikawa, Y. Kawashima, A. J. Griffith, J. R. Holt, TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear. Neuron 79, 504-515 (2013).
12. M. Beurg, W. Xiong, B. Zhao, U. Müller, R. Fettiplace, Subunit determination of the conductance of hair-cell mechanotransducer channels. Proc. Natl. Acad. Sci. U.S.A. 112, 1589-1594 (2015).
13. W. Marcotti, A. Erven, S. L. Johnson, K. P. Steel, C. J. Kros, Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea. J. Physiol. 574, 677-698 (2006).
14. S. Vreugde, A. Erven, C. J. Kros, W. Marcotti, H. Fuchs, K. Kurima, E. R. Wilcox, T. B. Friedman, A. J. Griffith, R. Balling, M. Hrabé De Angelis, K. B. Avraham, K. P. Steel, Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat. Genet. 30, 257-258 (2002).
15. Y. Zhao, D. Wang, L. Zong, F. Zhao, L. Guan, P. Zhang W. Shi, L. Lan, H. Wang, Q. Li, B. Han, L. Yang, X. Jin, J. Wang, J. Wang, Q. Wang, A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. PLOS One 9, e97064 (2014).
16. V.H. Hernandez, A. Gehrt, K. Reuter, Z. Jing, M. Jeschke, A. Mendoza Schulz, G. Hoch, M. Bartels, G. Vogt, C. W. Garnham, H. Yawo, Y. Fukazawa, G. J. Augustine, E. Bamberg, S. Kügler, T. Salditt, L. de Hoz, N. Strenzke, T. Moser, Optogenetic stimulation of the auditory pathway. J. Clin. Invest. 124, 1114-1129 (2014).
17. S. Safieddine, R. J. Wenthold, SNARE complex at the ribbon synapses of cochlear hair cells: Analysis of synaptic vesicle- and synaptic membrane-associated proteins. Eur. J. Neurosci. 11, 803-812 (1999).
18. J. C. Bedrosian, M. A. Gratton, J. V. Brigande, W. Tang, J. Landau, J. Bennett, In vivo delivery of recombinant viruses to the fetal murine cochlea: Transduction characteristics and long-term effects on auditory function. Mol. Ther. 14, 328-335 (2006).
19. L. A. Kilpatrick, Q. Li, J. Yang, J. C. Goddard, D. M. Fekete, H. Lang, Adeno-associated virus-mediated gene delivery into the scala media of the normal and deafened adult mouse ear. Gene Ther. 18, 569-578 (2011).
20. J. E. Gale, W. Marcotti, H. J. Kennedy, C. J. Kros, G. P. Richardson, FM1-43 dye behaves as a permeant blocker of the hair-cell mechanotransducer channel. J. Neurosci. 21, 7013-7025 (2001).
21. J. R. Meyers, R. B. MacDonald, A. Duggan, D. Lenzi, D. G. Standaert, J. T. Corwin, D. P. Corey, Lighting up the senses: FM1-43 loading of sensory cells through nonselective ion channels. J. Neurosci. 23, 4054-4065 (2003).
22. G. S. Géléoc, J. R. Holt, Developmental acquisition of sensory transduction in hair cells of the mouse inner ear. Nat. Neurosci. 10, 1019-1020 (2003).
23. A. J. Hudspeth, Integrating the active process of hair cells with cochlear function. Nat. Rev. Neurosci. 15, 600-614 (2014).
24. M. C. Liberman, J. Gao, D. Z. Z. He, X. Wu, S. Jia, J. Zuo, Prestin is required for electromotility of the outer hair cell and for the cochlear amplifier. Nature 419, 300-304 (2002).
25. S. F. Maison, X.-P. Liu, D. E. Vetter, R. A. Eatock, N. M. Nathanson, J. Wess, M. C. Liberman, Muscarinic signaling in the cochlea: Presynaptic and postsynaptic effects on efferent feedback and afferent excitability. J. Neurosci. 30, 6751-6762 (2010).
26. D. Grimm, M. A. Kay, J. A. Kleinschmidt, Helper virus-free, optically controllable, and two-plasmid-based production of adeno-associated virus vectors of serotypes 1 to 6. Mol. Ther. 7, 839-850 (2003).
27. A. E. Stauffer, J. R. Holt, Sensory transduction and adaptation in inner and outer hair cells of the mouse auditory system. J. Neurophysiol. 98, 3360-3369 (2007).